Genetics Chapter

[Donat Ruel]

GeneticAlliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2009 Jul 8.

Each chromosome contains many genes, the basic physical and functional units ofheredity. Genes are specific sequences of bases that encode instructions for how tomake proteins. The DNA sequence is the particular side-by-side arrangement of basesalong the DNA strand (e.g., ATTCCGGA). Each gene has a unique DNA sequence. Genescomprise only about 29 percent of the human genome; the remainder consists ofnon-coding regions, whose functions may include providing chromosomal structuralintegrity and regulating where, when, and in what quantity proteins are made. Thehuman genome is estimated to contain 20,000 to 25,000 genes.

Although each cell contains a full complement of DNA, cells use genes selectively.For example, the genes active in a liver cell differ from the genes active in abrain cell because each cell performs different functions and, therefore, requiresdifferent proteins. Different genes can also be activated during development or inresponse to environmental stimuli such as an infection or stress.

Many, if not most, diseases are caused or influenced by genetics. Genes, through theproteins they encode, determine how efficiently foods and chemicals are metabolized,how effectively toxins are detoxified, and how vigorously infections are targeted.Genetic diseases can be categorized into three major groups: single-gene,chromosomal, and multifactorial.

In addition to mutations in single genes, genetic diseases can be caused by largermutations in chromosomes. Chromosomal abnormalities may result from either the totalnumber of chromosomes differing from the usual amount or the physical structure of achromosome differing from the usual structure. The most common type of chromosomalabnormality is known as aneuploidy, an abnormal number of chromosomes due to anextra or missing chromosome. A usual karyotype (complete chromosome set) contains 46chromosomes including an XX (female) or an XY (male) sex chromosome pair. Structuralchromosomal abnormalities include deletions, duplications, insertions, inversions,or translocations of a chromosome segment. (See Appendix F for more information aboutchromosomal abnormalities.)

The basic laws of inheritance are useful in understanding patterns of diseasetransmission. Single-gene diseases are usually inherited in one of several patterns,depending on the location of the gene (e.g., chromosomes 1-22 or X and Y) andwhether one or two normal copies of the gene are needed for normal protein activity.Five basic modes of inheritance for single-gene diseases exist: autosomal dominant,autosomal recessive, X-linked dominant, X-linked recessive, and mitochondria. (Seediagram on following page.)

Although some genetic variations may cause or modify disease risk, other changes mayresult in no increased risk or a neutral presentation. For example, genetic variantsin a single gene account for the different blood types: A, B, AB, and O.Understanding the clinical significance of genetic variation is a complicatedprocess because of our limited knowledge of which genes are involved in a disease orcondition and the multiple gene-gene and gene-behavior-environment interactionslikely to be involved in complex, chronic diseases. New technologies are enablingfaster and more accurate detection of genetic variants in hundreds or thousands ofgenes in a single process.

(c) The provisions of this section shall not apply to a person who (1) is licensed under chapter 370, (2) is an advanced practice registered nurse licensed under chapter 378, (3) is a nurse-midwife licensed under chapter 377, (4) provides genetic counseling while acting within the scope of practice of the person's license and training, provided the person does not hold himself or herself out to the public as a genetic counselor, (5) is employed by the federal government to provide genetic counseling while in the discharge of the person's official duties, or (6) is a student enrolled in (A) a genetic counseling educational program, (B) a medical genetics educational program accredited by the American Board of Genetic Counseling, or any successor of said board, or the American Board of Medical Genetics and Genomics, or (C) a graduate nursing or medical education program in genetics, and genetic counseling is an integral part of the student's course of study and such student is performing such counseling under the direct supervision of a licensed genetic counselor or physician.

Sec. 20-195rr. Qualification for licensure. Licensure by endorsement. Fees. (a) On and after October 1, 2015, the Commissioner of Public Health shall grant a license as a genetic counselor to any applicant who, except as provided in subsections (b) and (c) of this section, furnishes evidence satisfactory to the commissioner that such applicant has earned a certification as a genetic counselor from the American Board of Genetic Counseling, or any successor of said board, or the American Board of Medical Genetics and Genomics. The commissioner shall develop and provide application forms. The application fee shall be three hundred fifteen dollars.

(b) An applicant for a license as a genetic counselor may, in lieu of the requirements set forth in subsection (a) of this section, submit evidence satisfactory to the commissioner of having, prior to October 1, 2015: (1) Acquired eight years of experience in the practice of genetic counseling; (2) earned, from an accredited institution of higher education, a master's or doctoral degree in genetics or a related field; and (3) attended a continuing education program approved by the National Society of Genetic Counselors within the five-year period prior to the date of application.

(c) An applicant for licensure by endorsement shall present evidence satisfactory to the commissioner that the applicant is licensed or certified as a genetic counselor, or as a person entitled to perform similar services under a different designation, in another state or jurisdiction that has requirements for practicing in such capacity that are substantially similar to, or higher than, those of this state and that there are no disciplinary actions or unresolved complaints pending in this state or any other state.

(d) Licenses issued under this section shall be renewed annually pursuant to section 19a-88. The fee for such renewal shall be one hundred ninety dollars. Each licensed genetic counselor applying for license renewal shall furnish evidence satisfactory to the commissioner of having current certification with the American Board of Genetic Counseling, or any successor of said board, or the American Board of Medical Genetics and Genomics and having obtained continuing education units for certification as required by said boards.

Sec. 20-195ss. Temporary permit. The Department of Public Health may issue a temporary permit to an applicant for licensure as a genetic counselor who holds a master's degree or higher in genetic counseling or a related field. Such temporary permit shall authorize the holder of the temporary permit to practice genetic counseling under the general supervision of a licensed genetic counselor or a licensed physician at all times during which the holder of the temporary permit performs genetic counseling. Such temporary permit shall be valid for a period not to exceed three hundred sixty-five calendar days after the date of attaining such master's degree or higher and shall not be renewable. No temporary permit shall be issued under this section to any applicant against whom professional disciplinary action is pending or who is the subject of an unresolved complaint in this state or any other state. The commissioner may revoke a temporary permit for good cause, as determined by the commissioner. The fee for a temporary permit shall be fifty dollars.

Sec. 20-195tt. Disciplinary action. Grounds. The Commissioner of Public Health may take any disciplinary action set forth in section 19a-17 against a genetic counselor for any of the following reasons: (1) Failure to conform to the accepted standards of the profession; (2) conviction of a felony; (3) fraud or deceit in obtaining or seeking reinstatement of a license to practice genetic counseling; (4) fraud or deceit in the practice of genetic counseling; (5) negligent, incompetent or wrongful conduct in professional activities; (6) physical, mental or emotional illness or disorder resulting in an inability to conform to the accepted standards of the profession; (7) alcohol or substance abuse; or (8) wilful falsification of entries in any hospital, patient or other record pertaining to genetic counseling. The commissioner may order a license holder to submit to a reasonable physical or mental examination if his or her physical or mental capacity to practice safely is the subject of an investigation. The commissioner may petition the superior court for the judicial district of Hartford to enforce such order or any action taken pursuant to section 19a-17. The commissioner shall give notice and an opportunity to be heard on any contemplated action under section 19a-17.

Sec. 20-195uu. Regulations. The Commissioner of Public Health may adopt regulations, in accordance with the provisions of chapter 54, to implement the provisions of sections 20-195pp to 20-195tt, inclusive.

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While important findings about the physiology and genetics of H. pylori are summarized in this volume, it also includes sections on epidemiology, bacteriology, bacterial virulence and pathogenic mechanisms, pathogenesis in the host, diagnosis and treatment, animal models, and other Helicobacter species.

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